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Q9NZV5

- SELN_HUMAN

UniProt

Q9NZV5 - SELN_HUMAN

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Protein

Selenoprotein N

Gene

SEPN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Selenoprotein N
Short name:
SelN
Gene namesi
Name:SEPN1
Synonyms:SELN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:15999. SEPN1.

Subcellular locationi

Isoform 2 : Endoplasmic reticulum membrane Curated
Note: Probably membrane-associated.

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Rigid spine muscular dystrophy 1 (RSMD1) [MIM:602771]: A neuromuscular disorder characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti273 – 2731G → E in RSMD1. 1 Publication
VAR_019635
Natural varianti293 – 2931H → R in RSMD1. 2 Publications
VAR_019636
Natural varianti315 – 3151G → S in RSMD1. 2 Publications
VAR_019637
Natural varianti340 – 3401N → I in RSMD1. 1 Publication
VAR_019638
Natural varianti453 – 4531W → S in RSMD1. 1 Publication
VAR_019639
Natural varianti462 – 4621U → G in RSMD1. 1 Publication
VAR_019640
Natural varianti463 – 4631G → V in RSMD1. 1 Publication
VAR_058462
Natural varianti466 – 4661R → Q in RSMD1. 3 Publications
VAR_019641
Natural varianti469 – 4691R → Q in RSMD1. 1 Publication
VAR_058463
Natural varianti469 – 4691R → W in RSMD1. 1 Publication
VAR_058464

Keywords - Diseasei

Desmin-related myopathy, Disease mutation, Myofibrillar myopathy

Organism-specific databases

MIMi602771. phenotype.
Orphaneti324604. Classic multiminicore myopathy.
2020. Congenital fiber-type disproportion myopathy.
84132. Desmin-related myopathy with Mallory body-like inclusions.
97244. Rigid spine syndrome.
PharmGKBiPA38079.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4343Sequence AnalysisAdd
BLAST
Chaini44 – 590547Selenoprotein NPRO_0000022311Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi126 – 1261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi190 – 1901N-linked (GlcNAc...)Sequence Analysis
Glycosylationi483 – 4831N-linked (GlcNAc...)Sequence Analysis
Glycosylationi505 – 5051N-linked (GlcNAc...)Sequence Analysis
Glycosylationi531 – 5311N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated (isoform 2).

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9NZV5.
PaxDbiQ9NZV5.
PRIDEiQ9NZV5.

PTM databases

PhosphoSiteiQ9NZV5.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.2 Publications

Gene expression databases

BgeeiQ9NZV5.
CleanExiHS_SEPN1.
ExpressionAtlasiQ9NZV5. baseline and differential.
GenevestigatoriQ9NZV5.

Organism-specific databases

HPAiHPA058076.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163332EBI-1751965,EBI-389883

Protein-protein interaction databases

BioGridi121439. 12 interactions.
IntActiQ9NZV5. 5 interactions.
STRINGi9606.ENSP00000355141.

Structurei

3D structure databases

ProteinModelPortaliQ9NZV5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini67 – 10236EF-handPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi17 – 5943Ala-richAdd
BLAST

Domaini

The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.

Sequence similaritiesi

Contains 1 EF-hand domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG68411.
GeneTreeiENSGT00390000005972.
HOGENOMiHOG000007489.
HOVERGENiHBG108469.
InParanoidiQ9NZV5.
OMAiSTATYLQ.
OrthoDBiEOG7HTHGM.
PhylomeDBiQ9NZV5.
TreeFamiTF329622.

Family and domain databases

InterProiIPR002048. EF_hand_dom.
IPR029484. GVQW.
[Graphical view]
PfamiPF13900. GVQW. 1 hit.
[Graphical view]
PROSITEiPS50222. EF_HAND_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NZV5-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGRARPGQRG PPSPGPAAQP PAPPRRRARS LALLGALLAA AAAAAVRVCA
60 70 80 90 100
RHAEAQAAAR QELALKTLGT DGLFLFSSLD TDGDMYISPE EFKPIAEKLT
110 120 130 140 150
GSCSVTQTGV QWCSHSSLQP QLPWLNUSSC LSLLRSTPAA SCEEEELPPD
160 170 180 190 200
PSEETLTIEA RFQPLLPETM TKSKDGFLGV SRLALSGLRN WTAAASPSAV
210 220 230 240 250
FATRHFQPFL PPPGQELGEP WWIIPSELSM FTGYLSNNRF YPPPPKGKEV
260 270 280 290 300
IIHRLLSMFH PRPFVKTRFA PQGAVACLTA ISDFYYTVMF RIHAEFQLSE
310 320 330 340 350
PPDFPFWFSP AQFTGHIILS KDATHVRDFR LFVPNHRSLN VDMEWLYGAS
360 370 380 390 400
ESSNMEVDIG YIPQMELEAT GPSVPSVILD EDGSMIDSHL PSGEPLQFVF
410 420 430 440 450
EEIKWQQELS WEEAARRLEV AMYPFKKVSY LPFTEAFDRA KAENKLVHSI
460 470 480 490 500
LLWGALDDQS CUGSGRTLRE TVLESSPILT LLNESFISTW SLVKELEELQ
510 520 530 540 550
NNQENSSHQK LAGLHLEKYS FPVEMMICLP NGTVVHHINA NYFLDITSVK
560 570 580 590
PEEIESNLFS FSSTFEDPST ATYMQFLKEG LRRGLPLLQP

Note: The UGA codons present in position 127 and 462 are either a selenocysteine or a real stop codon.

Length:590
Mass (Da):65,813
Last modified:January 11, 2011 - v5
Checksum:iD7D4D6331652C359
GO
Isoform 2 (identifier: Q9NZV5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     102-135: Missing.

Note: The UGA codon present in position 462 is either a selenocysteine or a real stop codon.

Show »
Length:556
Mass (Da):62,034
Checksum:i0DAF9C344FA543AC
GO

Sequence cautioni

The sequence AAH15638.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH42154.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti247 – 2471G → S in AAF21430. (PubMed:10608886)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371T → A.
Corresponds to variant rs35019869 [ dbSNP | Ensembl ].
VAR_038845
Natural varianti142 – 1421C → Y.1 Publication
Corresponds to variant rs7349185 [ dbSNP | Ensembl ].
VAR_038846
Natural varianti273 – 2731G → E in RSMD1. 1 Publication
VAR_019635
Natural varianti293 – 2931H → R in RSMD1. 2 Publications
VAR_019636
Natural varianti315 – 3151G → S in RSMD1. 2 Publications
VAR_019637
Natural varianti340 – 3401N → I in RSMD1. 1 Publication
VAR_019638
Natural varianti453 – 4531W → S in RSMD1. 1 Publication
VAR_019639
Natural varianti462 – 4621U → G in RSMD1. 1 Publication
VAR_019640
Natural varianti463 – 4631G → V in RSMD1. 1 Publication
VAR_058462
Natural varianti466 – 4661R → Q in RSMD1. 3 Publications
VAR_019641
Natural varianti469 – 4691R → Q in RSMD1. 1 Publication
VAR_058463
Natural varianti469 – 4691R → W in RSMD1. 1 Publication
VAR_058464
Natural varianti502 – 5021N → K.3 Publications
Corresponds to variant rs2294228 [ dbSNP | Ensembl ].
VAR_038847

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei102 – 13534Missing in isoform 2. 1 PublicationVSP_011372Add
BLAST

Non-standard residue

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-standard residuei127 – 1271Selenocysteine
Non-standard residuei462 – 4621Selenocysteine

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ306399 mRNA. Translation: CAC83791.1.
AJ306398 Genomic DNA. Translation: CAC83790.1.
AL020996 Genomic DNA. No translation available.
AF166125 mRNA. Translation: AAF21430.1.
BC015638 mRNA. Translation: AAH15638.1. Different initiation.
BC042154 mRNA. Translation: AAH42154.1. Different initiation.
CCDSiCCDS41282.1. [Q9NZV5-1]
CCDS41283.1. [Q9NZV5-2]
RefSeqiNP_065184.2. NM_020451.2. [Q9NZV5-1]
NP_996809.1. NM_206926.1. [Q9NZV5-2]
UniGeneiHs.323396.

Genome annotation databases

EnsembliENST00000361547; ENSP00000355141; ENSG00000162430. [Q9NZV5-1]
ENST00000374315; ENSP00000363434; ENSG00000162430. [Q9NZV5-2]
GeneIDi57190.
KEGGihsa:57190.
UCSCiuc021ojk.1. human. [Q9NZV5-1]
uc021ojl.1. human. [Q9NZV5-2]

Polymorphism databases

DMDMi317373588.

Keywords - Coding sequence diversityi

Alternative splicing, Selenocysteine

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ306399 mRNA. Translation: CAC83791.1 .
AJ306398 Genomic DNA. Translation: CAC83790.1 .
AL020996 Genomic DNA. No translation available.
AF166125 mRNA. Translation: AAF21430.1 .
BC015638 mRNA. Translation: AAH15638.1 . Different initiation.
BC042154 mRNA. Translation: AAH42154.1 . Different initiation.
CCDSi CCDS41282.1. [Q9NZV5-1 ]
CCDS41283.1. [Q9NZV5-2 ]
RefSeqi NP_065184.2. NM_020451.2. [Q9NZV5-1 ]
NP_996809.1. NM_206926.1. [Q9NZV5-2 ]
UniGenei Hs.323396.

3D structure databases

ProteinModelPortali Q9NZV5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121439. 12 interactions.
IntActi Q9NZV5. 5 interactions.
STRINGi 9606.ENSP00000355141.

PTM databases

PhosphoSitei Q9NZV5.

Polymorphism databases

DMDMi 317373588.

Proteomic databases

MaxQBi Q9NZV5.
PaxDbi Q9NZV5.
PRIDEi Q9NZV5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361547 ; ENSP00000355141 ; ENSG00000162430 . [Q9NZV5-1 ]
ENST00000374315 ; ENSP00000363434 ; ENSG00000162430 . [Q9NZV5-2 ]
GeneIDi 57190.
KEGGi hsa:57190.
UCSCi uc021ojk.1. human. [Q9NZV5-1 ]
uc021ojl.1. human. [Q9NZV5-2 ]

Organism-specific databases

CTDi 57190.
GeneCardsi GC01P026126.
GeneReviewsi SEPN1.
HGNCi HGNC:15999. SEPN1.
HPAi HPA058076.
MIMi 602771. phenotype.
606210. gene.
neXtProti NX_Q9NZV5.
Orphaneti 324604. Classic multiminicore myopathy.
2020. Congenital fiber-type disproportion myopathy.
84132. Desmin-related myopathy with Mallory body-like inclusions.
97244. Rigid spine syndrome.
PharmGKBi PA38079.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG68411.
GeneTreei ENSGT00390000005972.
HOGENOMi HOG000007489.
HOVERGENi HBG108469.
InParanoidi Q9NZV5.
OMAi STATYLQ.
OrthoDBi EOG7HTHGM.
PhylomeDBi Q9NZV5.
TreeFami TF329622.

Miscellaneous databases

ChiTaRSi SEPN1. human.
GeneWikii SEPN1.
GenomeRNAii 57190.
NextBioi 63268.
PROi Q9NZV5.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZV5.
CleanExi HS_SEPN1.
ExpressionAtlasi Q9NZV5. baseline and differential.
Genevestigatori Q9NZV5.

Family and domain databases

InterProi IPR002048. EF_hand_dom.
IPR029484. GVQW.
[Graphical view ]
Pfami PF13900. GVQW. 1 hit.
[Graphical view ]
PROSITEi PS50222. EF_HAND_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome."
    Moghadaszadeh B., Petit N., Jaillard C., Brockington M., Roy S.Q., Merlini L., Romero N., Estournet B., Desguerre I., Chaigne D., Muntoni F., Topaloglu H., Guicheney P.
    Nat. Genet. 29:17-18(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS RSMD1 GLU-273; ARG-293 AND GLN-466, VARIANTS TYR-142 AND LYS-502, TISSUE SPECIFICITY.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif."
    Lescure A., Gautheret D., Carbon P., Krol A.
    J. Biol. Chem. 274:38147-38154(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 86-590 (ISOFORM 2), VARIANT LYS-502.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 428-590 (ISOFORMS 1/2), VARIANT LYS-502.
    Tissue: Lung.
  5. "Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern."
    Petit N., Lescure A., Rederstorff M., Krol A., Moghadaszadeh B., Wewer U.M., Guicheney P.
    Hum. Mol. Genet. 12:1045-1053(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  6. "Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies."
    Ferreiro A., Quijano-Roy S., Pichereau C., Moghadaszadeh B., Goemans N., Boennemann C., Jungbluth H., Straub V., Villanova M., Leroy J.-P., Romero N.B., Martin J.-J., Muntoni F., Voit T., Estournet B., Richard P., Fardeau M., Guicheney P.
    Am. J. Hum. Genet. 71:739-749(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RSMD1 ARG-293; SER-315; ILE-340; SER-453; GLY-462 AND GLN-466.
  7. "Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene."
    Ferreiro A., Ceuterick-de Groote C., Marks J.J., Goemans N., Schreiber G., Hanefeld F., Fardeau M., Martin J.-J., Goebel H.H., Richard P., Guicheney P., Bonnemann C.G.
    Ann. Neurol. 55:676-686(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RSMD1 SER-315.
  8. "A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy."
    Maiti B., Arbogast S., Allamand V., Moyle M.W., Anderson C.B., Richard P., Guicheney P., Ferreiro A., Flanigan K.M., Howard M.T.
    Hum. Mutat. 30:411-416(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RSMD1 VAL-463; GLN-466; GLN-469 AND TRP-469.

Entry informationi

Entry nameiSELN_HUMAN
AccessioniPrimary (citable) accession number: Q9NZV5
Secondary accession number(s): A6NJG8
, A8MQ64, Q6PI70, Q969F6, Q9NUI6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 117 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3